Diagnosis means 'we can start to work with it'

After years of wondering why their little girl did not
eat, Pip and Gareth Hughes finally have a diagnosis.

It has been discovered Grace, now aged 9, has Coffin-Siris
syndrome, a rare genetic condition affecting about 80 people
worldwide.

''The answer explains a lot. Now we know, we can start to
work with it,'' Mr Hughes said.

Grace first featured in the Otago Daily Times in 2009
as a 5-year-old who did not eat and had to be tube-fed as a
result.

Doctors found no physical reason for her inability to eat and
after years of hospital visits her parents decided to take
the momentous step of taking her to a specialist hospital in
Graz, Austria.

With the help of family, friends and the public, $50,000 was
raised to enable the family to travel to Europe for
treatment.

Grace returned from Austria having moved on to eating custard
and without the gastric tube which had been keeping her
alive.

It meant she could start school, which she loved, although
she continued with counselling and speech therapy.

The diagnosis came after a Swiss geneticist discovered the
gene anomaly indicating the syndrome. Mr and Mrs Hughes' and
Grace's blood was sent to Europe and included in the trial.

It confirmed Grace had Coffin-Siris syndrome, something that
had been considered by doctors in Austria but rejected, as
she did not have what had been thought to be the key feature
of the disease - abnormalities of the fifth (little) fingers
or toes.

It was a relief for her parents, who now had others they
could speak to about handling Grace's condition and had
confirmation there was a reason she did not want to eat.

''There were people who thought she was just a fussy eater,
but we now know it's part of her make-up. She's not just
being naughty,'' Mrs Hughes said.

However, because she had not been diagnosed, her parents
admit they had probably pushed her harder than they might
have if they had known.

''Because we were told there was no physical reason, we did
everything possible. We did not accept 'no','' she said.

As a result, Grace was walking and eating without a tube,
something most children with the condition did not do.

Custard was still Grace's favourite food, but she also ate
food processed into a paste, yoghurt and ice cream. A dentist
had found her mouth structure meant it was hard for her to
chew.

''She'll eat what we have, just without any lumps.''

They were slowly increasing the texture and temperature of
her food and doing exercises to help her get over her fear of
crunchy food.

She was doing well at school with the help of a teacher aide
and often surprised her therapists with her achievements, she
said.

''Grace is tiny, but that is a blessing. She has a really
motherly nature and is very sensitive to other people's
emotions,'' Mrs Hughes said.